SLC2A7
gene geneOn this page
Also known as GLUT7
Summary
SLC2A7 (solute carrier family 2 member 7, HGNC:13445) is a protein-coding gene on chromosome 1p36.23, encoding Solute carrier family 2, facilitated glucose transporter member 7 (Q6PXP3). Probable sugar transporter.
SLC2A7 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Li et al., 2004). This family of transporters shows conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).
Source: NCBI Gene 155184 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 116 total
- MANE Select transcript:
NM_207420
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13445 |
| Approved symbol | SLC2A7 |
| Name | solute carrier family 2 member 7 |
| Location | 1p36.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GLUT7 |
| Ensembl gene | ENSG00000197241 |
| Ensembl biotype | protein_coding |
| OMIM | 610371 |
| Entrez | 155184 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000400906
RefSeq mRNA: 1 — MANE Select: NM_207420
NM_207420
CCDS: CCDS98
Canonical transcript exons
ENST00000400906 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001065122 | 9018223 | 9018375 |
| ENSE00001065126 | 9015117 | 9015242 |
| ENSE00001065128 | 9007310 | 9007385 |
| ENSE00001065159 | 9010143 | 9010244 |
| ENSE00001065167 | 9014681 | 9014868 |
| ENSE00001180940 | 9004752 | 9004879 |
| ENSE00001319861 | 9019209 | 9019333 |
| ENSE00001330901 | 9013525 | 9013635 |
| ENSE00001545307 | 9022918 | 9023078 |
| ENSE00001545308 | 9024976 | 9025074 |
| ENSE00001545309 | 9026295 | 9026423 |
| ENSE00001609188 | 9002973 | 9003518 |
Expression profiles
Bgee: expression breadth tissue_specific, 7 present calls, max score 69.63.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0247 / max 12.5415, expressed in 6 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 10186 | 0.0247 | 6 |
Top tissues by expression
109 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| duodenum | UBERON:0002114 | 69.63 | gold quality |
| small intestine | UBERON:0002108 | 41.13 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 40.66 | silver quality |
| hindlimb stylopod muscle | UBERON:0004252 | 39.16 | gold quality |
| granulocyte | CL:0000094 | 38.27 | gold quality |
| bone marrow cell | CL:0002092 | 38.23 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 37.57 | gold quality |
| colonic epithelium | UBERON:0000397 | 37.20 | gold quality |
| ventricular zone | UBERON:0003053 | 36.48 | gold quality |
| cortical plate | UBERON:0005343 | 36.47 | gold quality |
| ganglionic eminence | UBERON:0004023 | 35.49 | gold quality |
| bone marrow | UBERON:0002371 | 35.25 | gold quality |
| sural nerve | UBERON:0015488 | 35.19 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 34.91 | gold quality |
| intestine | UBERON:0000160 | 33.18 | gold quality |
| tonsil | UBERON:0002372 | 32.41 | gold quality |
| leukocyte | CL:0000738 | 31.95 | gold quality |
| monocyte | CL:0000576 | 31.71 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 31.12 | gold quality |
| urinary bladder | UBERON:0001255 | 30.59 | gold quality |
| prostate gland | UBERON:0002367 | 30.10 | silver quality |
| colon | UBERON:0001155 | 29.94 | gold quality |
| stromal cell of endometrium | CL:0002255 | 29.87 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 29.77 | silver quality |
| blood | UBERON:0000178 | 29.67 | gold quality |
| right uterine tube | UBERON:0001302 | 29.09 | gold quality |
| prefrontal cortex | UBERON:0000451 | 29.04 | gold quality |
| gall bladder | UBERON:0002110 | 28.57 | gold quality |
| lymph node | UBERON:0000029 | 27.57 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 27.39 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.79 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 2)
- Unusual substrate specificity and close sequence identity with GLUT5. GLUT7 may represent intermediate between class II GLUTs and class I member GLUT2. Comparison may give key to structural determinants for recognition of fructose as a substrate. (PMID:15033637)
- a hydrophobic residue is a key determinant of fructose transport in SLC2A7 (PMID:16186102)
Cross-species orthologs
51 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ENSDARG00000001937 | |
| danio_rerio | slc2a15a | ENSDARG00000029894 |
| danio_rerio | slc2a3b | ENSDARG00000037861 |
| danio_rerio | slc2a15b | ENSDARG00000053269 |
| danio_rerio | slc2a11l | ENSDARG00000062873 |
| danio_rerio | slc2a11b | ENSDARG00000063288 |
| danio_rerio | slc2a9l1 | ENSDARG00000070672 |
| mus_musculus | Slc2a7 | ENSMUSG00000062064 |
| rattus_norvegicus | Slc2a7 | ENSRNOG00000036951 |
| drosophila_melanogaster | Glut3 | FBGN0015230 |
| drosophila_melanogaster | sut4 | FBGN0028560 |
| drosophila_melanogaster | sut3 | FBGN0028561 |
| drosophila_melanogaster | sut2 | FBGN0028562 |
| drosophila_melanogaster | sut1 | FBGN0028563 |
| drosophila_melanogaster | CG4607 | FBGN0029932 |
| drosophila_melanogaster | CG15406 | FBGN0031517 |
| drosophila_melanogaster | CG8837 | FBGN0031520 |
| drosophila_melanogaster | CG3285 | FBGN0031522 |
| drosophila_melanogaster | CG15408 | FBGN0031523 |
| drosophila_melanogaster | CG7882 | FBGN0033047 |
| drosophila_melanogaster | Tret1-2 | FBGN0033644 |
| drosophila_melanogaster | CG8249 | FBGN0034045 |
| drosophila_melanogaster | CG6484 | FBGN0034247 |
| drosophila_melanogaster | CG14160 | FBGN0036066 |
| drosophila_melanogaster | nebu | FBGN0036316 |
| drosophila_melanogaster | CG1208 | FBGN0037386 |
| drosophila_melanogaster | CG14606 | FBGN0037485 |
| drosophila_melanogaster | CG14605 | FBGN0037486 |
| drosophila_melanogaster | CG6901 | FBGN0038414 |
| drosophila_melanogaster | CG17929 | FBGN0038415 |
| drosophila_melanogaster | CG17930 | FBGN0038416 |
| drosophila_melanogaster | Tret1-1 | FBGN0050035 |
| drosophila_melanogaster | CG32053 | FBGN0052053 |
| drosophila_melanogaster | CG32054 | FBGN0052054 |
| drosophila_melanogaster | CG33281 | FBGN0053281 |
| drosophila_melanogaster | CG33282 | FBGN0053282 |
| drosophila_melanogaster | Srg2 | FBGN0262007 |
| drosophila_melanogaster | CG42826 | FBGN0262008 |
| caenorhabditis_elegans | WBGENE00008730 | |
| caenorhabditis_elegans | WBGENE00010684 | |
| caenorhabditis_elegans | WBGENE00010811 | |
| caenorhabditis_elegans | WBGENE00012536 | |
| caenorhabditis_elegans | WBGENE00013074 | |
| caenorhabditis_elegans | WBGENE00016431 | |
| caenorhabditis_elegans | WBGENE00017382 | |
| caenorhabditis_elegans | WBGENE00019207 | |
| caenorhabditis_elegans | WBGENE00019547 | |
| caenorhabditis_elegans | WBGENE00019548 | |
| caenorhabditis_elegans | WBGENE00019549 | |
| caenorhabditis_elegans | WBGENE00019550 | |
| caenorhabditis_elegans | WBGENE00043980 |
Paralogs (13): SLC2A3 (ENSG00000059804), SLC2A9 (ENSG00000109667), SLC2A1 (ENSG00000117394), SLC2A11 (ENSG00000133460), SLC2A8 (ENSG00000136856), SLC2A5 (ENSG00000142583), SLC2A12 (ENSG00000146411), SLC2A13 (ENSG00000151229), SLC2A6 (ENSG00000160326), SLC2A2 (ENSG00000163581), SLC2A14 (ENSG00000173262), SLC2A4 (ENSG00000181856), SLC2A10 (ENSG00000197496)
Protein
Protein identifiers
Solute carrier family 2, facilitated glucose transporter member 7 — Q6PXP3 (reviewed: Q6PXP3)
Alternative names: Glucose transporter type 7
All UniProt accessions (1): Q6PXP3
UniProt curated annotations — full annotation on UniProt →
Function. Probable sugar transporter. Even if its physiological substrate is subject to discussion, it is able to transport glucose and fructose. Does not transport galactose, 2-deoxy-d-glucose and xylose.
Subcellular location. Cell membrane. Apical cell membrane.
Tissue specificity. Expressed in small intestine and colon. Weakly expressed in testis and prostate.
Activity regulation. Glucose and fructose transport are inhibited by the flavonoid apigenin.
Induction. Expression is increased in presence of fructose.
Similarity. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
RefSeq proteins (1): NP_997303* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003663 | Sugar/inositol_transpt | Family |
| IPR005828 | MFS_sugar_transport-like | Family |
| IPR005829 | Sugar_transporter_CS | Conserved_site |
| IPR020846 | MFS_dom | Domain |
| IPR036259 | MFS_trans_sf | Homologous_superfamily |
| IPR045263 | GLUT | Family |
Pfam: PF00083
Catalyzed reactions (Rhea), 2 shown:
- D-fructose(out) = D-fructose(in) (RHEA:60372)
- D-glucose(out) = D-glucose(in) (RHEA:60376)
UniProt features (70 total): helix 27, topological domain 13, transmembrane region 12, turn 6, binding site 3, sequence variant 2, mutagenesis site 2, strand 2, chain 1, region of interest 1, glycosylation site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9J2N | ELECTRON MICROSCOPY | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6PXP3-F1 | 87.93 | 0.70 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (3): 294–295; 300; 331
Glycosylation sites (1): 57
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 302 | does not affect glucose or fructose transport. |
| 302 | abolished fructose transport. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-189200 | Cellular hexose transport |
MSigDB gene sets: 24 (showing top):
GOBP_CARBOHYDRATE_TRANSPORT, GOBP_D_GLUCOSE_IMPORT, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_VITAMIN_TRANSPORT, GOCC_APICAL_PLASMA_MEMBRANE, GOBP_TRANSMEMBRANE_TRANSPORT, GOCC_APICAL_PART_OF_CELL, GOCC_PLASMA_MEMBRANE_REGION, GOMF_SUGAR_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_TRANSPORTER_ACTIVITY, chr1p36, GOMF_CARBOHYDRATE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, REACTOME_CELLULAR_HEXOSE_TRANSPORT, REACTOME_TRANSPORT_OF_SMALL_MOLECULES, GOBP_DEHYDROASCORBIC_ACID_TRANSPORT
GO Biological Process (6): hexose transmembrane transport (GO:0008645), fructose transmembrane transport (GO:0015755), obsolete D-glucose import (GO:0046323), dehydroascorbic acid transport (GO:0070837), D-glucose transmembrane transport (GO:1904659), transmembrane transport (GO:0055085)
GO Molecular Function (4): fructose transmembrane transporter activity (GO:0005353), sugar transmembrane transporter activity (GO:0051119), D-glucose transmembrane transporter activity (GO:0055056), transmembrane transporter activity (GO:0022857)
GO Cellular Component (3): plasma membrane (GO:0005886), apical plasma membrane (GO:0016324), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| SLC-mediated transmembrane transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| hexose transmembrane transport | 2 |
| hexose transmembrane transporter activity | 2 |
| monosaccharide transmembrane transport | 1 |
| vitamin transport | 1 |
| transport | 1 |
| cellular process | 1 |
| fructose transmembrane transport | 1 |
| carbohydrate transmembrane transporter activity | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| membrane | 1 |
| cell periphery | 1 |
| apical part of cell | 1 |
| plasma membrane region | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
586 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC2A7 | SLC5A4 | Q9NY91 | 512 |
| SLC2A7 | SLC5A1 | P13866 | 508 |
| SLC2A7 | SLC5A9 | Q2M3M2 | 507 |
| SLC2A7 | SLC45A1 | Q9Y2W3 | 456 |
| SLC2A7 | OR10C1 | Q96KK4 | 434 |
| SLC2A7 | CCDC166 | P0CW27 | 370 |
| SLC2A7 | SLC2A5 | P22732 | 361 |
| SLC2A7 | OR52B4 | Q8NGK2 | 358 |
| SLC2A7 | TMEM215 | Q68D42 | 353 |
| SLC2A7 | KIRREL2 | Q6UWL6 | 353 |
| SLC2A7 | SLC2A6 | Q9UGQ3 | 335 |
| SLC2A7 | SLC5A11 | Q8WWX8 | 327 |
| SLC2A7 | SLC50A1 | Q9BRV3 | 326 |
| SLC2A7 | SLC2A12 | Q8TD20 | 322 |
| SLC2A7 | KHK | P50053 | 310 |
IntAct
126 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SLC2A7 | SNX27 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PTPN3 | SLC2A7 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | MAST2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | SCRIB | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | PDZK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| NHERF2 | SLC2A7 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAST1 | SLC2A7 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | DLG1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | LIN7B | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | LIN7C | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | DLG3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | DLG4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | MAGI2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | DLG2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | NHERF4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RHPN1 | SLC2A7 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | PARD3B | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | WHRN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| APBA3 | SLC2A7 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | MPP2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | GOPC | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | PDZD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | TJP1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | MPDZ | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | PDZRN4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | PICK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC2A7 | APBA2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (97): DHX16 (Affinity Capture-MS), SUGP1 (Affinity Capture-MS), DHX38 (Affinity Capture-MS), LGALS3 (Affinity Capture-MS), DPP9 (Affinity Capture-MS), RNF25 (Affinity Capture-MS), SLC2A7 (Affinity Capture-MS), ABCC1 (Affinity Capture-MS), ADCY7 (Affinity Capture-MS), AGPAT4 (Affinity Capture-MS), ALG11 (Affinity Capture-MS), ANO10 (Affinity Capture-MS), APOB (Affinity Capture-MS), APP (Affinity Capture-MS), ARL6IP5 (Affinity Capture-MS)
ESM2 similar proteins: A0A3Q2IDB4, A0A8B7HA97, A4ZYQ5, A6NK97, G1SZD9, O35956, O57379, O88909, P22732, P23945, P43427, Q0IHM1, Q2KIV1, Q3ZAV1, Q4U2R8, Q4W8A2, Q4W8A3, Q5R9C4, Q5RC45, Q5RCH6, Q5RET7, Q63ZE4, Q66J52, Q6DFR1, Q6NUB3, Q6NYN7, Q6PXP3, Q6T423, Q70BM6, Q76M72, Q76M99, Q80UJ1, Q863Y9, Q864Z3, Q8CFZ5, Q8HY24, Q8IVM8, Q8MK48, Q8N4F4, Q8R0S9
Diamond homologs: A0A0H2VG78, A1Z8N1, A4ZYQ5, A5LGM7, A9ZSY2, A9ZSY3, B0WC46, B3MG58, B3NSE1, B4GAP7, B4HNS0, B4HNS1, B4J913, B4KR05, B4LPX5, B4MYA4, B4P624, B4QBN2, B4QBN3, C0SPB2, O04036, O04249, O34718, O44827, O52733, O62787, P0AE24, P0AE25, P0AEP1, P0AEP2, P0C6A1, P11166, P11167, P11169, P13355, P14142, P14246, P14672, P15686, P17809
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 80 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Ras activation upon Ca2+ influx through NMDA receptor | 5 | 56.0× | 1e-06 |
| Unblocking of NMDA receptors, glutamate binding and activation | 5 | 53.3× | 1e-06 |
| Negative regulation of NMDA receptor-mediated neuronal transmission | 5 | 53.3× | 1e-06 |
| Long-term potentiation | 5 | 46.6× | 2e-06 |
| Assembly and cell surface presentation of NMDA receptors | 9 | 44.8× | 4e-11 |
| Neurexins and neuroligins | 10 | 38.6× | 1e-11 |
| Protein-protein interactions at synapses | 6 | 31.2× | 1e-06 |
| RHOA GTPase cycle | 5 | 7.3× | 8e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 11 | 84.1× | 1e-16 |
| protein localization to synapse | 6 | 60.5× | 6e-08 |
| receptor clustering | 7 | 57.5× | 6e-09 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 7 | 45.6× | 2e-08 |
| cell-cell adhesion | 10 | 13.4× | 3e-07 |
| protein-containing complex assembly | 8 | 12.0× | 2e-05 |
| chemical synaptic transmission | 7 | 7.1× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
116 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 98 |
| Likely benign | 9 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2140 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:9003525:C:CT | acceptor_gain | 1.0000 |
| 1:9004749:CACCT:C | donor_loss | 1.0000 |
| 1:9004750:A:AC | donor_gain | 1.0000 |
| 1:9004750:ACC:A | donor_loss | 1.0000 |
| 1:9004751:C:CC | donor_gain | 1.0000 |
| 1:9004751:CCTGG:C | donor_gain | 1.0000 |
| 1:9004880:C:CA | acceptor_loss | 1.0000 |
| 1:9007308:A:AC | donor_gain | 1.0000 |
| 1:9007309:C:CC | donor_gain | 1.0000 |
| 1:9010141:ACCT:A | donor_loss | 1.0000 |
| 1:9010142:CC:C | donor_loss | 1.0000 |
| 1:9010157:C:CT | donor_gain | 1.0000 |
| 1:9010158:C:CT | donor_gain | 1.0000 |
| 1:9010241:CAGC:C | acceptor_gain | 1.0000 |
| 1:9010244:CCTG:C | acceptor_loss | 1.0000 |
| 1:9010245:C:A | acceptor_loss | 1.0000 |
| 1:9010245:C:CC | acceptor_gain | 1.0000 |
| 1:9010246:T:G | acceptor_loss | 1.0000 |
| 1:9013521:TCAC:T | donor_loss | 1.0000 |
| 1:9013522:CACCG:C | donor_loss | 1.0000 |
| 1:9013523:A:AC | donor_gain | 1.0000 |
| 1:9013524:C:CC | donor_gain | 1.0000 |
| 1:9013524:C:CT | donor_loss | 1.0000 |
| 1:9013524:CCGAG:C | donor_gain | 1.0000 |
| 1:9013631:TTGAT:T | acceptor_gain | 1.0000 |
| 1:9013632:TGAT:T | acceptor_gain | 1.0000 |
| 1:9013633:GAT:G | acceptor_gain | 1.0000 |
| 1:9013633:GATCT:G | acceptor_loss | 1.0000 |
| 1:9013634:AT:A | acceptor_gain | 1.0000 |
| 1:9013635:TCT:T | acceptor_loss | 1.0000 |
AlphaMissense
3274 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:9015240:A:G | W198R | 0.988 |
| 1:9015240:A:T | W198R | 0.988 |
| 1:9003495:G:C | F448L | 0.983 |
| 1:9003495:G:T | F448L | 0.983 |
| 1:9003497:A:G | F448L | 0.983 |
| 1:9015166:G:C | S222R | 0.983 |
| 1:9015166:G:T | S222R | 0.983 |
| 1:9015168:T:G | S222R | 0.983 |
| 1:9015238:C:A | W198C | 0.981 |
| 1:9015238:C:G | W198C | 0.981 |
| 1:9019270:G:C | S125R | 0.980 |
| 1:9019270:G:T | S125R | 0.980 |
| 1:9019272:T:G | S125R | 0.980 |
| 1:9018251:G:C | S187R | 0.978 |
| 1:9018251:G:T | S187R | 0.978 |
| 1:9018253:T:G | S187R | 0.978 |
| 1:9004764:G:C | F436L | 0.973 |
| 1:9004764:G:T | F436L | 0.973 |
| 1:9004766:A:G | F436L | 0.973 |
| 1:9003486:A:C | F451L | 0.967 |
| 1:9003486:A:T | F451L | 0.967 |
| 1:9003488:A:G | F451L | 0.967 |
| 1:9018264:G:T | A183E | 0.967 |
| 1:9018277:C:G | G179R | 0.967 |
| 1:9018277:C:T | G179R | 0.967 |
| 1:9025003:G:C | N41K | 0.967 |
| 1:9025003:G:T | N41K | 0.967 |
| 1:9023064:A:C | F55L | 0.966 |
| 1:9023064:A:T | F55L | 0.966 |
| 1:9023066:A:G | F55L | 0.966 |
dbSNP variants (sampled 300 via entrez): RS1000027449 (1:9003941 T>C), RS1000045234 (1:9009059 A>G), RS1000096014 (1:8995757 T>A), RS1000254245 (1:9001331 A>G), RS1000344780 (1:9026067 C>T), RS1000357106 (1:9028398 G>A), RS1000358957 (1:9010954 C>A,T), RS1000389559 (1:8999156 T>C), RS1000529930 (1:8995475 G>A), RS1000579499 (1:9010696 G>C), RS1000624264 (1:9021803 G>A), RS1000641369 (1:8993993 T>G), RS1000655445 (1:9021996 T>A), RS1000685299 (1:9004915 G>A), RS1000798268 (1:9023063 A>C,G)
Disease associations
OMIM: gene MIM:610371 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — Class II transporters
CTD chemical–gene interactions
9 total (human), top 9 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Fructose | increases transport | 2 |
| Glucose | increases transport | 2 |
| benzo(e)pyrene | increases methylation | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Methapyrilene | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.